Canonical Allele Identifier: CA446561578

Gene: KLHL3

Linked Data

• dbSNP Id: rs1438097298
• gnomAD v2: 5-136975655-C-A
• MyVariant Identifiers: chr5:g.136975655C>A (hg19) ; chr5:g.137639966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639966C>A , CM000667.2:g.137639966C>A	GRCh38
NC_000005.9:g.136975655C>A , CM000667.1:g.136975655C>A	GRCh37
NC_000005.8:g.137003554C>A	NCBI36
NG_032569.1:g.101125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.915G>T MANE Select	ENSP00000312397.4:p.Val305=
ENST00000309755.8:c.915G>T	ENSP00000312397.4:p.Val305=
ENST00000502381.1:n.502G>T
ENST00000504208.5:c.*335-11529G>T	ENSP00000423585.1:n.*335-11529G>T
ENST00000505853.1:c.795G>T	ENSP00000426173.1:p.Val265=
ENST00000506491.5:c.669G>T	ENSP00000424828.1:p.Val223=
ENST00000506873.5:n.540G>T
ENST00000508657.5:c.819G>T	ENSP00000422099.1:p.Val273=
NM_001257194.1:c.819G>T	NP_001244123.1:p.Val273=
NM_001257195.1:c.669G>T	NP_001244124.1:p.Val223=
NM_017415.2:c.915G>T	NP_059111.2:p.Val305=
NM_017415.3:c.915G>T MANE Select	NP_059111.2:p.Val305=
NM_001257195.2:c.669G>T	NP_001244124.1:p.Val223=